ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn)

dbSNP: rs886038794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244146 SCV000317787 pathogenic Cardiovascular phenotype 2013-04-30 criteria provided, single submitter clinical testing This variant has been determined to be the result of a de novo mutation or germline mosaicism in one family tested by our laboratory (current case).This variant has not been detected in conjunction with a pathogenic mutation to date.Allele frequency data in population-based cohorts is not currently available.This amino acid position is completely conserved on sequence alignment.This alteration is predicted to be probably damaging with a score of 0.999 (sensitivity: 0.08; specificity: 1.00)This alteration is predicted to be deleterious with a score of 0.000 (conservation: 2.03)
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health RCV002251451 SCV002522186 pathogenic Loeys-Dietz syndrome 2 2021-08-06 criteria provided, single submitter clinical testing

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